Creutzfeldt-Jakob disease overview: Difference between revisions
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===Laboratory Findings=== | ===Laboratory Findings=== | ||
The diagnosis of CJD is suspected when there are typical clinical symptoms and signs such as rapidly progressing [[dementia]] with [[myoclonus]]. Analysis of CSF for [[14-3-3 protein]] is done to establish probable diagnosis. Positive 14-3-3 protein in CSF analysis makes the diagnosis of CJD probable but it is not diagnostic of CJD.<ref name="Muayqil-2012">{{Cite journal | last1 = Muayqil | first1 = T. | last2 = Gronseth | first2 = G. | last3 = Camicioli | first3 = R. | title = Evidence-based guideline: diagnostic accuracy of CSF 14-3-3 protein in sporadic Creutzfeldt-Jakob disease: report of the guideline development subcommittee of the American Academy of Neurology. | journal = Neurology | volume = 79 | issue = 14 | pages = 1499-506 | month = Oct | year = 2012 | doi = 10.1212/WNL.0b013e31826d5fc3 | PMID = 22993290 }}</ref> | The diagnosis of CJD is suspected when there are typical clinical symptoms and signs such as rapidly progressing [[dementia]] with [[myoclonus]]. Analysis of CSF for [[14-3-3 protein]] is done to establish probable diagnosis. Positive 14-3-3 protein in CSF analysis makes the diagnosis of CJD probable but it is not diagnostic of CJD.<ref name="Muayqil-2012">{{Cite journal | last1 = Muayqil | first1 = T. | last2 = Gronseth | first2 = G. | last3 = Camicioli | first3 = R. | title = Evidence-based guideline: diagnostic accuracy of CSF 14-3-3 protein in sporadic Creutzfeldt-Jakob disease: report of the guideline development subcommittee of the American Academy of Neurology. | journal = Neurology | volume = 79 | issue = 14 | pages = 1499-506 | month = Oct | year = 2012 | doi = 10.1212/WNL.0b013e31826d5fc3 | PMID = 22993290 }}</ref> | ||
===MRI=== | |||
MRI findings in CJD include high signal abnormalities in [[caudate nucleus]] and/or [[putamen]] on diffusion-weighted imaging (DWI) or fluid attenuated inversion recovery (FLAIR).<ref name="www.cdc.gov">{{Cite web | last = | first = | title = http://www.cdc.gov/ncidod/dvrd/cjd/diagnostic_criteria.html | url = http://www.cdc.gov/ncidod/dvrd/cjd/diagnostic_criteria.html | publisher = | date = | accessdate = 17 February 2014 }}</ref> | |||
===EEG=== | |||
Typical EEG findings in CJD include periodic bi or triphasic sharp wave complexes (PSWCs). | |||
===Biopsy=== | |||
[[Biopsy]] of the [[brain]] tissue is the definitive diagnostic test. | |||
==References== | ==References== | ||
{{Reflist|2}} | {{Reflist|2}} | ||
Revision as of 16:51, 17 February 2014
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Overview
Creutzfeldt-Jakob disease is a very rare and incurable degenerative neurological disorder (brain disease) that is ultimately fatal. Among the types of transmissible spongiform encephalopathy found in humans, it is the most common.[1]
Historical Perspective
Creutzfeldt Jakob disease was first coined by Spielmeyer in 1922 to describe cases of rapidly progressive dementia reported by Creutzfeldt in 1920 and Jakob in 1921.[2]
Classification
Creutzfeldt-Jakob disease is a rare fatal neurodegenerative disorder, it can occur in sporadic, familial and iatrogenic forms. Variant forms of CJD (vCJD) have also been recognized.
Pathophysiology
Creutzfeldt-Jakob disease is one of the transmissible spongiform encephalopathies (TSEs). The causative agents of TSEs are believed to be prions. The term "prions" refers to abnormal, pathogenic agents that are transmissible and are able to induce abnormal folding of specific normal cellular proteins called prion proteins that are found most abundantly in the brain. The functions of these normal prion proteins have still not been completely understood. The abnormal folding of the prion proteins leads to brain damage and the characteristic signs and symptoms of the disease. Prion diseases are usually rapidly progressive and always fatal.[1]
Differential Diagnosis of Creutzfeldt-Jakob Disease
Early signs of Creutzfeldt-Jakob disease(CJD) are highly variable, due to which it is often misdiagnosed or diagnosis is delayed. It should be differentiated from other causes of rapidly progressive dementia such as other neurodegenerative diseases, infections and dementia due to metabolic or toxic etiology.[3]
Epidemiology and Demographics
Creutzfeldt Jakob disease is a very rare disorder with an incidence of 1 case per 1 million per year.
Risk Factors
Risk of Creutzfeldt Jakob disease increases with age. It occurs most commonly in people older than 60 years. Family history of CJD and consumption of contaminated beef increase the risk of familial CJD and variant CJD respectively.
Prognosis
Creutzfeldt Jakob disease is rapidly progressive and always fatal. Infection with this disease leads to death usually within 1 year of onset of illness.[1]
Diagnosis
Physical Examination
Myoclonus, extrapyramidal signs and cerebellar signs are the most common physical findings in CJD.[4]
Laboratory Findings
The diagnosis of CJD is suspected when there are typical clinical symptoms and signs such as rapidly progressing dementia with myoclonus. Analysis of CSF for 14-3-3 protein is done to establish probable diagnosis. Positive 14-3-3 protein in CSF analysis makes the diagnosis of CJD probable but it is not diagnostic of CJD.[5]
MRI
MRI findings in CJD include high signal abnormalities in caudate nucleus and/or putamen on diffusion-weighted imaging (DWI) or fluid attenuated inversion recovery (FLAIR).[1]
EEG
Typical EEG findings in CJD include periodic bi or triphasic sharp wave complexes (PSWCs).
Biopsy
Biopsy of the brain tissue is the definitive diagnostic test.
References
- ↑ 1.0 1.1 1.2 1.3 "http://www.cdc.gov/ncidod/dvrd/cjd/". Retrieved 14 February 2014. External link in
|title=(help) - ↑ McKintosh, E.; Tabrizi, SJ.; Collinge, J. (2003). "Prion diseases". J Neurovirol. 9 (2): 183–93. doi:10.1080/13550280390194082. PMID 12707849. Unknown parameter
|month=ignored (help) - ↑ Paterson RW, Torres-Chae CC, Kuo AL, Ando T, Nguyen EA, Wong K; et al. (2012). "Differential diagnosis of jakob-creutzfeldt disease". Arch Neurol. 69 (12): 1578–82. doi:10.1001/2013.jamaneurol.79. PMID 23229042.
- ↑ Rabinovici, GD.; Wang, PN.; Levin, J.; Cook, L.; Pravdin, M.; Davis, J.; DeArmond, SJ.; Barbaro, NM.; Martindale, J. (2006). "First symptom in sporadic Creutzfeldt-Jakob disease". Neurology. 66 (2): 286–7. doi:10.1212/01.wnl.0000196440.00297.67. PMID 16434680. Unknown parameter
|month=ignored (help) - ↑ Muayqil, T.; Gronseth, G.; Camicioli, R. (2012). "Evidence-based guideline: diagnostic accuracy of CSF 14-3-3 protein in sporadic Creutzfeldt-Jakob disease: report of the guideline development subcommittee of the American Academy of Neurology". Neurology. 79 (14): 1499–506. doi:10.1212/WNL.0b013e31826d5fc3. PMID 22993290. Unknown parameter
|month=ignored (help)